Idea Transcript
UNIVERSI - International Journal of Education, Science, Technology, Innovation, Health and Environment (ISSN: 1857- 9450) Volume 03– Issue 01, December 2017 UDC: 616-056.7:577.22(496.5)
Genetic studies and analysis of haplotypes and haplogroups in Albanian people Aliu H1, Beadini N1, Beadini Sh1, Qoku L1, Iseni G1 1
University of Tetovo, Faculty of Mathematical Natural Sciences, Study program of Biology
Introduction Europe was colonized by modern humans about 40 000 years ago and underwent a second colonization waveduring the Neolithic, with the spread of farming.1,2 The relative Palaeolithic and Neolithic contribution to the current European gene pool has been widely debated and is still under discussion (1-4). Two opposing models have been cited to account for the spread of farming in Europe: the demic diffusion model, which implies a movement of people and therefore a significant Near Eastern genetic input, (5) and the cultural diffusion model, which, on the contrary, considers the transition to agriculture as a cultural phenomenon, and therefore without major changes at the genetic level (6). Archaeological evidences suggest, however, that the spread of agriculture has been a complex process characterized by migrations and localadmixture (7,8). Polymorphic markers (biallelic loci and STRs) positioned in the non recombined part of Y chromosome (NRY) and paternal inheritance make this chromosome a powerful tool for studying population genetics and evolution (9, 10). The use of Y chromosome is increasing as new polymorphisms suitable for the studies of human evolutionary history emerge, mostly because of advanced experimental techniques(11, 12). Therefore, Y chromosome studies are useful in studies of large-scale evolutionary events in human history and population genetics phenomena in small isolated communities. The impact of the Neolithic in the Balkans, as archaeological records show, is regarded to be considerable,(13) although Mesolithic hunter-gatherers were present in this region just before the first appearance of Neolithic pottery (14). Thus, the question to address is the following: can we detect present day signals of interactions between indigenous Mesolithic people and agricultural colonists in the southeast European gene pool? In this regard, particularly useful are Y-chromosome markers, whose distribution is often highly correlated with their phylogeny (15). As a contribution to the evaluation of the biological history of the Albanian population, we have studied the sequence variability of the first hypervariable segment of mtDNA control region (HV1) in 42 individuals and that of Y-specific haplotypes based on microsatellite DYS19 and the Alu insertion (YAP) in 56individuals. The Albanian population had never been examined for these polymorphisms. Its study is of particular interest in the context of the settlement of the European continent, due to the fact that the Albanian language is a separate lineage of the Indo-European linguistic family. It is indeed very distinct from the Italic, Greek, Celtic, Germanic and Balto-Slavic sub-families that represent the vast majority of the languages spoken in Europe. A recent study on blood groups distributions (AB0, MN and Rh) suggested that Albanians may be indeed quite different from other Balkan populations(16). Y-chromosome DNA (Y-DNA) haplogroups are determined by single-nucleotide polymorphism (SNP) tests. SNPs are locations on the DNA where one nucleotide has "mutated" or "switched" to a different nucleotide. When you have taken a mitochondrial DNA (mtDNA) test most companies will give you a prediction of your mtDNA haplogroup. The haplogroup can however only be confirmed by testing specific branch-defining single-nucleotide polymorphisms (SNPs), some of which are only found in the coding region (17). Albanian diversity for these haploid molecular markers was compared with that of other published UNIVERSI Journal (www.universi.mk)
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samples from continental Europe, in order to evaluate the level of differentiation among IndoEuropeans and to check the correlation between genetic and linguistic affinities for these populations. The aim of this study was firstly to identify the published data for the specific Y chromosome and mtDNA “Albanians haplotypes” in the region of Europe, particularly in Albania, Kosovo and Macedonia and secondly analyzing the frequencies of these haplotypes in Albanian people and comparison with other neighbor peoples. Analysis of Y-DNA haplogroups To realize this article, it has been used data base of Eupedia, which can use as a useful tool for analyzing and genetic interpretation of specific haplotypes in different human population of Europe. Also as a broad source of genetic data for haplotypes, in particular “Albanian” haplotypes have been used several scientific articles which cover also the genetic origin of Albanian people. There are several scientific articles about haplotypes analysis of Y chromosome and mtDNA where have been included samples from Albania, Kosovo and Macedonia (West Region). The most important studies are from Semino et al. (2000), Pasarino et al., (2001), Belledi et al., (2000), Battaglia et al., (2009), Schmidt et al., (2003). According Semino et al, (2000) in Albanian samples from Albania, Kosovo and Macedonia have been found these haplotypes: Eu3, Eu4, Eu7, Eu9, Eu10, Eu11, Eu18 and Eu19 (18). Firstly, we have presented and overview of haplogroups in Prehistoric Europe. Table.1 Paternal and maternal haplogroups in Prehistoric Europe Prehistoric Europe
Paternal Haplogroup
Maternal Haplogroup
Mesolithic
Present in the most places of
U4, and U5 as the subclades
Europe: I, preI1, I1, I2*, I2a2 cca. 12.000 BC
H (H1, H3, H17), T, U2, and V
More expressed I2a1 North Europe; R1a Neolithic
E1b1b* and G2a, as J1, J2 and T
HV, J1, J2, K1, K2, N*, N1, T1a,
(Anatoly, Greece, Balkan, Italy,
T2b, T2c, T2e, T2f, U3, W, X1, X2,
CEE-Center East Europe)
as more subclades; H2, H5, H7, H13 and H20
Bronze Age
R1, C4a, H1b, H1c, H2a1, H6, H11,
H5a, H6, H8, H15, I1a1, J1b1a,
K1b1b, K1c, K2b, T1a1a1, T2a1b1,
K1a3, K2a6, U5, and subclade V
T2b2, T2b4, U2e, U4, U5a1a, W
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UNIVERSI - International Journal of Education, Science, Technology, Innovation, Health and Environment (ISSN: 1857- 9450) Volume 03– Issue 01, December 2017
Figure 1. Chronological development of Y-DNA haplogroups From the chronological development Y-DNA haplogroups presented above, the E1b1b haplogroup which had originated from cca 26.000 ybc, and late the same line has been diverged in two orher lines asE-M78-Ev13 and E-M8 is mostly haplogroup which has been founded in most analysed samples from Albania, Kosovo and Macedonia. Also the haplogroup I (42.000 ybc) which diverge in to new lines as I1 and I2 is present in South East Europe and Balkan which is populated by Albanians. Another one very important study about haplogroup analysis was the article which cover the migration of the paternal genes in Slavic population (Pericic, 2005), including samples from the neighbor’s people as Albanians from Kosovo and Macedonia.
Figure 2. The frequency of some specific haplotypes founded in Slavic and Albanian people.
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UNIVERSI - International Journal of Education, Science, Technology, Innovation, Health and Environment (ISSN: 1857- 9450) Volume 03– Issue 01, December 2017
The red underlined haplotypes show the highest frequencypresence in Albanian population for a respective haplotypes. From the figure is seen that four major haplotypes groups E3b1, J2e1, I1a and R1b are common for Slavic and Albanian population, in particular E3b1 and R1a haplotypes. In the figure 2 has been noticed that in population of Kosovo the haplogroups are presented as below: E3b1-a which is a subclade of M78 marker cca 45 %, R1b subclade of M173 21%, J2e1 subclade of M241 16,7 %. Table 2: Summary of frequencies in percentage of haplotypes present in Albanian population: R1b, R1a, E3b1 and J2e (Pericic et al., 2005) Popullation
R1b-M173
R1a-M17
I1b*
E3b1-M78
J2eM102
Albanian (Kosovo)
21,1
4,4
2,7
45,6
16,7
%
Albanian
17,6
9,8
17,0
27,0
14,3
%
(Albania)
In the table 2 are presented the percentage of haplogroups in the respective study; R1b 17,6 % , R1a 9,8%, I1b 17%, E3b1 27%, and J2e1 14,3 %. Another one very important study about Albanian haplotypes is article of Bataglia et al., 2009, the main topics are Y haplotypes of Albanians from Macedonia and Albania. The summarized results of this article are presented in the table 3 below, where are noticed only the Albanian Yhaplotypes and not the other Y haplotypes which are also the part of the respective study. Table 3. Haplogroups of the Y chromosomes according Bataglia et al., 2009 Haplogroups and subclades
Percentageof Albanian population
Percentage in Albanian population of Macedonia
YAP-M35-M78-Y13-E1b1a2
23,6
34,4
M168-M89-M201-P15-G2
1,8
1,6
M168-M429-M258-M438-P37,2-M423-I2a1
14,5
9,4
M168-M429-M304-M172-M172-M410-M67-J2a1b
3,6
1,6
M168-M429-M304-M172-M172-M12-M102-M241-J2b2
14,5
14,1
M89-M74-M207-M173-M17-R1a1
9,1
1,6
M89-M74-M207-M173-M343-M296-R1b1b2
18,2
88,18
The first study about haplotypes of the Y chromosome from Albania has been reported by Semino et al., 2000, the samples have been processed in Stanford University in USA. In the figure below is showed that mostly haplotypes are derived from haplotype Eu10 and Eu7. The haplotypes which are present in Albania are underlined with two lines below.
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UNIVERSI - International Journal of Education, Science, Technology, Innovation, Health and Environment (ISSN: 1857- 9450) Volume 03– Issue 01, December 2017
Figure 3. European and Albanians haplotypes (tagged by two underlines) according Semino et., 2004.
Analysis of mitochondrial DNA haplogroup (mtDNA) and their presence in Albanian population The mtDNA haplogroup distribution found in the Balkans was similar to that found in other European populations. The Balkan populations presented the characteristic European hap- logroups with very little influence of Asian or African sequences (a maximum of 5% in Romanian Aromuns, comprising one C and one D Asian lineage. As previously described in European samples, sequences belonging to the H haplogroup were the most prevalent in the Balkans,with frequencies around 40–50% (20).
Figure 4. Phylogenetic tree of human mtDNA haplogroups
The other mtDNA haplogroup which includes the Albanian population and are represented in Southeast Europe are: K mtDNa haplogroup subclade of U8, K1a, K1b, K1c and all others subclades of K2.
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UNIVERSI - International Journal of Education, Science, Technology, Innovation, Health and Environment (ISSN: 1857- 9450) Volume 03– Issue 01, December 2017
Table 4. Summarizing of Y and mtDNA haplogroups according group of authors HAPLOGRUPET Y
REFERENCA
E1b1a2, G2, I1, I2a1, I2b2, R1a1, R1b1b2
Bataglia et al, 2009
R1b-M173, R1a-M17, I1b*, E3b1-M78, J2eM102
Pericic et al, 2005
E1b1b, pre-I1, I2, I2a, R1b1
Eupedia
Eu3, Eu4, Eu7, Eu9, Eu10, Eu11, Eu18 dhe Eu19
Semino et al.,2000
E3b1-M78b2, E3b2, E3b3, H, I, J, J2, R1a1, R1b
Bosch et al., 2006
HAPLOGRUPET mtDNA H, K, U8, K1a, K1b, K1c dhe subkladet e K2
Eupedia Eupedia
If you look at mtDNA sequences for two presumably unrelated people and if those sequences are the same, then those two people shared a common female ancestor at some unknown time in the past. However, if those same two people have identical mtDNA sequences in all but one or two positions, it is possible to use the mtDNA mutation rate to estimate how long ago they shared a common ancestor. This is what Anthropological Geneticists have done with mtDNA sequences from thousands of living people from all over the world. What they have found is astounding! Differences in world-wide mtDNA sequences form into distinct clusters, or lineages. Moreover, there are only nineteen of them. Antonio Torroni, Brayn Sykes and colleagueshave assigned letters to each of the groups. They are A,B,C,D,F,G,H,I,J,K,L,M,N,U,V,W, and X (21, 22, 23). Even more important is that certain lineages are found only in certain parts of the world. Lineages H, I, J, K, T, U, V, and W are only seen in Europe, lineages L, N, and M in Africa and the Middle East, and lineages F and G in Asia. Lineages A, B, C, and D are found in Asia and in Native Americans while lineage X is found in Europe and in a small number of Native Americans (24). Table 5. mtDNA haplogroups in Europe according Sykes (1999). Population Age Neandertal Early Paleolitic
Represented 300.00
Haplotypes Group Unknown
Percentage population 0 %
50.000
U5
10 %
Late Paleolitic Neolitic
11-14.000
H, V, I, W, T, K
70 %
8.500
J, H, T, K
20
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UNIVERSI - International Journal of Education, Science, Technology, Innovation, Health and Environment (ISSN: 1857- 9450) Volume 03– Issue 01, December 2017
Below in the figure is represented the phylogenetic tree of mtDNA.
Figure 4. Migration map for founding haplogroups, courtesy of Family Tree DNA Even Albanian population belong to indo-europian language family, from literature study it results to be closely related for mtDNA HV1 to most other population in Europe. This is evident from the fact that 36 of 42 HV sequences are common among European population. Similar model has been observed for two Y chromosome polymorphisms. As it is previously noticed YAP+ chromosome (Y Alu Polymorphism) are less frequent in North Europe (0-7%) compare to South Europe (8-20%) where Albanian population represented with 14.3% of the respective polymorphism (25). One third ofY chromosomes studied in South East Europe have allele which are derived from P37 C and it has been classified into the haplotype I1b * (XM26). A detailed study shows that line I1b * (xM26) reaches the maximum frequency in Southeastern Europe and STRtw I1b * (xM26) highest peak in a large geographic region that includes both South East and Central Europe. The frequency of I1b * (xM26) haplotype decreases from SEE to the west (from 20% in Slovenian population suddenly to 1% in the Northern Italians) and the South (17% -18% in Albanians and Greeknorth population, 8% in South Greek population, 2% in Turkish population) and maintains frequencies of 7% -22% in Central and Eastern Europe. E3b1-M78 is the most common line of haplogroup E in Europe (19). The distribution of the haplogroups of mtDNA found in the Balkans is similar to that found in other European populations or sequences with African origin (a maximum of 5% in Romania's Aromanians) As previously described in European samples, sequences belonging to the haplogroup H are most common in the Balkans, with frequencies 40-50%. Conclusions Based on studies of DNA haplotype analysis of the Y chromosome and mitochondrial DNA found in the Albanian population, we can conclude: -
Haplogroup I2a2, I2a1 originated in Mesolithic period approximately 14.000 ago, while E1b1b and G in Neolithic Age. Haplogroups E3b1, R1b, I1b, J2b2 and J2e1 have high frequencies from14,5-45,6%. Haplogroups with minimum frequencies are G2, J2a1b, I1a and R1a Neolitic haplogroups Eu4, Eu9, E3b1, and R1b could be named arbitrary “Albanian haplogroups” .
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UNIVERSI - International Journal of Education, Science, Technology, Innovation, Health and Environment (ISSN: 1857- 9450) Volume 03– Issue 01, December 2017
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Haplogroup H (mtDNA) has been found more frequently (up to 50%) The structure of different haplotypes provides valuable information on identifying genetic changes among populations, as well as information on human evolutionary history Regardless that Albanian language forms a separate branch of the Indo-European languages family tree, the Albanian populationis found to be very similar to most other European populations for mtDNA. Albanians, with 14.3% of YAP chromosomes, are quite typical model of the Southern European population The frequency of I1b * (xM26) decreases from southeastern Europe to the west (from 20% in Sloven populationto 1% in northern Italy) and to South(17% -18% in Albanian and North Greek population, 8% in south Greek population, 2% in Turkish population) and the frequencyof I1b * (xM26) in central and east Europe has been maintained from 7%-22%. To date, several methods have been developed to identify haplotypes. However, there is no method which can be considered unique.More comparative methods can be used for haplotype analysis.
Finally, based on the analyzed polymorphisms, the Albanian population does not show any specific model that varies from whole genome pool found in Indo-European populations in Europe. Just as classical polymorphisms and additional studies on molecular autosomal markers can provide more accurate data on the genetic and linguistic history of the Indo-European population. References
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